Childhood onset dystonia, chorea or related movement disorder
Gene: MKS1

MKS1 (Meckel syndrome, type 1)
EnsemblGeneIds (GRCh38): ENSG00000011143
EnsemblGeneIds (GRCh37): ENSG00000011143
OMIM: 609883, Gene2Phenotype
MKS1 is in 25 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Red
London North GLH

Phenotypes

polydactyly
Joubert syndrome 28
Joubert syndrome
polycystic kidneys
occipital encephalocele
Meckel-Gruber syndrome
249000
renal fibrosis
Meckel syndrome
Bardet-Biedl syndrome

OMIM

609883

Clinvar variants

Variants in MKS1

Penetrance

None

Publications

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set mode of pathogenicity, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to MKS1. Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal Mode of pathogenicity for gene MKS1 was changed from to Other - please provide details in the comments Added phenotypes polydactyly; Joubert syndrome 28; Joubert syndrome; polycystic kidneys; occipital encephalocele; Meckel-Gruber syndrome; 249000; renal fibrosis; Meckel syndrome; Bardet-Biedl syndrome for gene: MKS1 Publications for gene MKS1 were changed from to 18327255; 26490104; 24886560; 17437276; 16415886